Variant report

Variant	esv2480456
Chromosome Location	chr4:98132887-98134284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150793175	chr4:98132919-98132920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72676537	chr4:98133083-98133084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs74737213	chr4:98133101-98133102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139898825	chr4:98133103-98133104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10667499	chr4:98133120-98133121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs33958204	chr4:98133121-98133122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200322487	chr4:98133130-98133131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76974334	chr4:98133131-98133132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200772168	chr4:98133135-98133136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532833344	chr4:98133240-98133241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553775302	chr4:98133247-98133248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572267139	chr4:98133258-98133259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143492237	chr4:98133265-98133266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146741332	chr4:98133279-98133280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531708691	chr4:98133280-98133281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543497369	chr4:98133323-98133324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562333966	chr4:98133347-98133348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529460842	chr4:98133362-98133363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114120699	chr4:98133382-98133383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371401130	chr4:98133388-98133389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28437329	chr4:98133391-98133392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536791208	chr4:98133409-98133410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62315814	chr4:98133483-98133484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62315815	chr4:98133516-98133517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533616450	chr4:98133545-98133546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552221741	chr4:98133547-98133548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62315816	chr4:98133592-98133593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369226748	chr4:98133617-98133618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554771463	chr4:98133632-98133633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62315817	chr4:98133680-98133681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372681289	chr4:98133693-98133694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183408274	chr4:98133696-98133697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555984262	chr4:98133874-98133875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568288965	chr4:98133887-98133888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77643018	chr4:98133895-98133896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28378393	chr4:98133900-98133901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572272877	chr4:98133901-98133902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189227021	chr4:98133908-98133909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74910212	chr4:98133958-98133959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192315061	chr4:98133960-98133961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs58009594	chr4:98133969-98133970	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577542223	chr4:98134014-98134015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145227678	chr4:98134036-98134037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544886208	chr4:98134073-98134074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548588241	chr4:98134085-98134086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182970700	chr4:98134092-98134093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553390850	chr4:98134093-98134094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13115674	chr4:98134097-98134098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs72888069	chr4:98134194-98134195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542561911	chr4:98134225-98134226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98132200-98134000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:98132800-98133000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:98133000-98133200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:98133200-98136400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:98134000-98136600	Weak transcription	Placenta Amnion	Placenta Amnion

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